Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745976_41745977insGCCGCCGCTGCCGCTGCCGCC , CM000666.2:g.41745976_41745977insGCCGCCGCTGCCGCTGCCGCC | GRCh38 |
| NC_000004.11:g.41747993_41747994insGCCGCCGCTGCCGCTGCCGCC , CM000666.1:g.41747993_41747994insGCCGCCGCTGCCGCTGCCGCC | GRCh37 |
| NC_000004.10:g.41442750_41442751insGCCGCCGCTGCCGCTGCCGCC | NCBI36 |
| NG_008243.1:g.7994_7995insGGCGGCAGCGGCAGCGGCGGC , LRG_513:g.7994_7995insGGCGGCAGCGGCAGCGGCGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.775_776insGGCGGCAGCGGCAGCGGCGGC MANE Select | ENSP00000226382.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro | |
| ENST00000226382.3:c.775_776insGGCGGCAGCGGCAGCGGCGGC | ENSP00000226382.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro | |
| NM_003924.3:c.775_776insGGCGGCAGCGGCAGCGGCGGC , LRG_513t1:c.775_776insGGCGGCAGCGGCAGCGGCGGC | NP_003915.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro | |
| NM_003924.4:c.775_776insGGCGGCAGCGGCAGCGGCGGC MANE Select | NP_003915.2:p.Ala259delinsGlyArgGlnArgGlnArgArgPro |